Everything about thr777
Everything about thr777
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence improvements on RNA splicing advise that this variant may perhaps make or bolster a splice website. In summary, the out there evidence is currently inadequate to determine the purpose of this variant in sickness. For that reason, it's been categorized as a Variant of Uncertain Importance. (significantly less)
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This column includes additional information supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations on the variant from the submitter.
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The amount of variants in ClinVar for this gene, like scaled-down variants in the gene and larger CNVs that overlap or totally contain the gene.
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The effect of the variant on RNA or protein functionality, based on experimental proof from submitters.
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